Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.135798089T>A | CA348590941 | LCT | c.4916A>T (p.Asn1639Ile) c.3009A>T (p.Gln1003His) | |
2 | g.135798089T>C | CA1887741 | LCT | c.4916A>G (p.Asn1639Ser) c.3009A>G (p.Gln1003=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135798089T>G | CA348590942 | LCT | c.4916A>C (p.Asn1639Thr) c.3009A>C (p.Gln1003His) | |
2 | g.135798089T= | CA1290826530 | LCT | c.4916A= (p.Asn1639=) c.3009A= (p.Gln1003=) | |
2 | g.135798090T>A | CA348590943 | LCT | c.4915A>T (p.Asn1639Tyr) c.3008A>T (p.Gln1003Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.135798090T>C | CA348590945 | LCT | c.4915A>G (p.Asn1639Asp) c.3008A>G (p.Gln1003Arg) | COSMIC |
2 | g.135798090T>G | CA348590944 | LCT | c.4915A>C (p.Asn1639His) c.3008A>C (p.Gln1003Pro) | |
2 | g.135798090T= | CA1290826531 | LCT | c.4915A= (p.Asn1639=) c.3008A= (p.Gln1003=) | |
2 | g.135798091G>A | CA429086201 | LCT | c.4914C>T (p.Tyr1638=) c.3007C>T (p.Gln1003Ter) | gnomAD v4 |
2 | g.135798091G>C | CA348590946 | LCT | c.4914C>G (p.Tyr1638Ter) c.3007C>G (p.Gln1003Glu) | |
2 | g.135798091G>T | CA348590947 | LCT | c.4914C>A (p.Tyr1638Ter) c.3007C>A (p.Gln1003Lys) | |
2 | g.135798092T>A | CA348590948 | LCT | c.4913A>T (p.Tyr1638Phe) c.3006A>T (p.Leu1002Phe) | |
2 | g.135798092T>C | CA348590949 | LCT | c.4913A>G (p.Tyr1638Cys) c.3006A>G (p.Leu1002=) | dbSNP gnomAD v4 |
2 | g.135798092T>G | CA348590950 | LCT | c.4913A>C (p.Tyr1638Ser) c.3006A>C (p.Leu1002Phe) | |
2 | g.135798093A>C | CA348590951 | LCT | c.4912T>G (p.Tyr1638Asp) c.3005T>G (p.Leu1002Ter) | |
2 | g.135798093A>G | CA348590952 | LCT | c.4912T>C (p.Tyr1638His) c.3005T>C (p.Leu1002Ser) | |
2 | g.135798093A>T | CA348590953 | LCT | c.4912T>A (p.Tyr1638Asn) c.3005T>A (p.Leu1002Ter) | |
2 | g.135798094del | CA2661274466 | LCT | c.4912del (p.Tyr1638ThrfsTer4) c.3005del (p.Leu1002TyrfsTer?) | gnomAD v4 |
2 | g.135798094A>C | CA348590955 | LCT | c.4911T>G (p.Asp1637Glu) c.3004T>G (p.Leu1002Val) | |
2 | g.135798094A>G | CA429086204 | LCT | c.4911T>C (p.Asp1637=) c.3004T>C (p.Leu1002=) | |
2 | g.135798094A>T | CA348590954 | LCT | c.4911T>A (p.Asp1637Glu) c.3004T>A (p.Leu1002Ile) | |
2 | g.135798095T>A | CA348590956 | LCT | c.4910A>T (p.Asp1637Val) c.3003A>T (p.Arg1001Ser) | |
2 | g.135798095T>C | CA348590957 | LCT | c.4910A>G (p.Asp1637Gly) c.3003A>G (p.Arg1001=) | |
2 | g.135798095T>G | CA348590958 | LCT | c.4910A>C (p.Asp1637Ala) c.3003A>C (p.Arg1001Ser) | |
2 | g.135798096C>A | CA348590959 | LCT | c.4909G>T (p.Asp1637Tyr) c.3002G>T (p.Arg1001Ile) | |
2 | g.135798096C>G | CA348590960 | LCT | c.4909G>C (p.Asp1637His) c.3002G>C (p.Arg1001Thr) | gnomAD v4 |
2 | g.135798096C>T | CA348590961 | LCT | c.4909G>A (p.Asp1637Asn) c.3002G>A (p.Arg1001Lys) | |
2 | g.135798097T>A | CA429086206 | LCT | c.4908A>T (p.Gly1636=) c.3001A>T (p.Arg1001Ter) | |
2 | g.135798097T>C | CA429086207 | LCT | c.4908A>G (p.Gly1636=) c.3001A>G (p.Arg1001Gly) | |
2 | g.135798097T>G | CA429086208 | LCT | c.4908A>C (p.Gly1636=) c.3001A>C (p.Arg1001=) | |
2 | g.135798098C>A | CA348590964 | LCT | c.4907G>T (p.Gly1636Val) c.3000G>T (p.Trp1000Cys) | |
2 | g.135798098C>G | CA348590962 | LCT | c.4907G>C (p.Gly1636Ala) c.3000G>C (p.Trp1000Cys) | |
2 | g.135798098C>T | CA348590963 | LCT | c.4907G>A (p.Gly1636Glu) c.3000G>A (p.Trp1000Ter) | |
2 | g.135798099C>A | CA348590965 | LCT | c.4906G>T (p.Gly1636Ter) c.2999G>T (p.Trp1000Leu) | |
2 | g.135798099C>G | CA348590966 | LCT | c.4906G>C (p.Gly1636Arg) c.2999G>C (p.Trp1000Ser) | |
2 | g.135798099C>T | CA348590967 | LCT | c.4906G>A (p.Gly1636Arg) c.2999G>A (p.Trp1000Ter) | gnomAD v4 |
2 | g.135798100A= | CA1290826532 | LCT | c.4905T= (p.Asn1635=) c.2998T= (p.Trp1000=) | |
2 | g.135798100A>C | CA348590968 | LCT | c.4905T>G (p.Asn1635Lys) c.2998T>G (p.Trp1000Gly) | gnomAD v4 |
2 | g.135798100A>G | CA429086210 | LCT | c.4905T>C (p.Asn1635=) c.2998T>C (p.Trp1000Arg) | dbSNP |
2 | g.135798100A>T | CA56602751 | LCT | c.4905T>A (p.Asn1635Lys) c.2998T>A (p.Trp1000Arg) | dbSNP |
2 | g.135798101T>A | CA348590969 | LCT | c.4904A>T (p.Asn1635Ile) c.2997A>T (p.Glu999Asp) | |
2 | g.135798101T>C | CA348590970 | LCT | c.4904A>G (p.Asn1635Ser) c.2997A>G (p.Glu999=) | |
2 | g.135798101T>G | CA348590971 | LCT | c.4904A>C (p.Asn1635Thr) c.2997A>C (p.Glu999Asp) | |
2 | g.135798102T>A | CA348590972 | LCT | c.4903A>T (p.Asn1635Tyr) c.2996A>T (p.Glu999Val) | |
2 | g.135798102T>C | CA348590973 | LCT | c.4903A>G (p.Asn1635Asp) c.2996A>G (p.Glu999Gly) | |
2 | g.135798102T>G | CA348590974 | LCT | c.4903A>C (p.Asn1635His) c.2996A>C (p.Glu999Ala) | |
2 | g.135798103C>A | CA348590975 | LCT | c.4902G>T (p.Lys1634Asn) c.2995G>T (p.Glu999Ter) | |
2 | g.135798103C>G | CA348590976 | LCT | c.4902G>C (p.Lys1634Asn) c.2995G>C (p.Glu999Gln) | |
2 | g.135798103C>T | CA429086214 | LCT | c.4902G>A (p.Lys1634=) c.2995G>A (p.Glu999Lys) | ClinVar |
2 | g.135798104T>A | CA348590979 | LCT | c.4901A>T (p.Lys1634Met) c.2994A>T (p.Gln998His) |